Genetic variant

rs4299376

rs4299376 is a single-letter difference in human DNA, on chromosome 2. Carrying it does not, on its own, mean you have or will develop any condition.

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What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs4299376 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.

Why might it matter?

ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.

Do I have this variant?

If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs4299376, if your test read this position.

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Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

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What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID
rs4299376
Position
chr2:43845437

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Low density lipoprotein cholesterol levels T β 0.07 5E-352 PubMed
Total cholesterol levels T β 0.065 9E-304 PubMed
Non-HDL cholesterol levels G β 0.072 2E-258 PubMed
Gall stone disease or coronary artery disease — — 4E-238 PubMed
Low density lipoprotein cholesterol levels — β 0.079 5E-187 PubMed
LDL cholesterol levels G β 0.054 4E-131 PubMed
Direct low density lipoprotein levels (UKB data field 30780) T β 0.051 8E-120 PubMed
Cholelithiasis (UKB data field 20002_1162) — OR 0.77 3E-116 PubMed
Cholesterol levels (UKB data field 30690) T β 0.048 1E-109 PubMed
Apolipoprotein B levels G β 0.048 1E-104 PubMed
low density lipoprotein cholesterol (LDLC, maximum, inv-norm transformed) G β 0.054 6E-90 PubMed
Total cholesterol levels T β 0.05 5E-89 PubMed
total cholesterol (maximum, inv-norm transformed) G β 0.053 5E-85 PubMed
High cholesterol G β 0.094 2E-78 PubMed
Campesterol levels T OR 0.37 2E-77 PubMed
Hyperlipidemia (PheCode 272.1) G β 0.099 4E-76 PubMed
LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) T — 8E-76 PubMed
Disorders of lipid metabolism (PheCode 272) G β 0.099 4E-75 PubMed
low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed) G β 0.05 1E-74 PubMed
LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) T — 4E-74 PubMed

Sources